Progranulin polymorphism rs5848 is associated with increased risk of Alzheimer's disease

Gene. 2014 Jun 1;542(2):141-5. doi: 10.1016/j.gene.2014.03.041. Epub 2014 Mar 25.


Progranulin is the precursor of granulins, and its down-regulation leads to neurodegeneration. Recent studies have indicated an association of progranulin polymorphism rs5848 with Alzheimer's disease (AD) risk, but the results remain controversial. To verify the association between rs5848 and AD risk, we retrieved the published literature from PubMed and other databases, and performed a meta-analysis by pooling all five studies containing 2502 AD cases and 2162 controls. The results showed that rs5848 is associated with increased risk of AD in homozygous (TT vs. CC: OR, 1.36; 95% CI, 1.11-1.66; P=0.003) and recessive models (TT vs. CC+CT: OR, 1.31; 95% CI, 1.08-1.58; P=0.006). This association was remained in Caucasian (2227 cases and 1902 controls). Our data indicate that TT allele of rs5848 is associated with increased risk of AD, suggesting that genetic variant of progranulin gene may play an important role in AD development.

Keywords: Alzheimer's disease; Meta-analysis; Polymorphism; Progranulin.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Case-Control Studies
  • Genetic Predisposition to Disease
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Progranulins
  • Publication Bias
  • White People / genetics


  • GRN protein, human
  • Intercellular Signaling Peptides and Proteins
  • Progranulins